Canonical Allele Identifier: CA353566973

Gene: SHQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72817238C>T , CM000665.2:g.72817238C>T	GRCh38
NC_000003.11:g.72866389C>T , CM000665.1:g.72866389C>T	GRCh37
NC_000003.10:g.72949079C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018130.3:c.874G>A MANE Select	NP_060600.2:p.Glu292Lys
ENST00000325599.13:c.874G>A MANE Select	ENSP00000315182.8:p.Glu292Lys
NM_018130.2:c.874G>A	NP_060600.2:p.Glu292Lys
ENST00000325599.12:c.874G>A	ENSP00000315182.8:p.Glu292Lys
ENST00000444040.6:c.*751G>A	ENSP00000402447.2:n.*751G>A
ENST00000463369.5:c.790G>A	ENSP00000417452.1:p.Glu264Lys
ENST00000468347.1:n.13G>A
ENST00000475558.5:n.147G>A
XM_011533894.1:c.874G>A	XP_011532196.1:p.Glu292Lys
XM_011533895.1:c.874G>A	XP_011532197.1:p.Glu292Lys
XM_011533895.2:c.874G>A	XP_011532197.1:p.Glu292Lys
XM_011533896.1:c.874G>A	XP_011532198.1:p.Glu292Lys
XM_011533896.2:c.874G>A	XP_011532198.1:p.Glu292Lys
XM_011533897.1:c.874G>A	XP_011532199.1:p.Glu292Lys
XM_011533897.2:c.874G>A	XP_011532199.1:p.Glu292Lys
XM_011533898.1:c.874G>A	XP_011532200.1:p.Glu292Lys
XM_011533898.2:c.874G>A	XP_011532200.1:p.Glu292Lys
XM_011533899.1:c.874G>A	XP_011532201.1:p.Glu292Lys
XM_017006724.1:c.874G>A	XP_016862213.1:p.Glu292Lys
XR_001740192.2:n.1009G>A
XR_001740193.1:n.1009G>A